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  1. Waardenburg Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1531
    ... may contain more recent information. — ED. Table A. Waardenburg Syndrome Type I: Genes ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Skin Pigmentation Disorders | Hyperpigmentation | MedlinePlus 
    https://medlineplus.gov/skinpigmentationdisorders.html
    ... Vici syndrome: MedlinePlus Genetics (National Library of Medicine) Waardenburg syndrome: MedlinePlus Genetics ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
  4. Hearing Problems and Deafness | Hearing Loss | MedlinePlus 
    https://medlineplus.gov/hearingdisordersanddeafness.html
    ... Vohwinkel syndrome: MedlinePlus Genetics (National Library of Medicine) Waardenburg syndrome: MedlinePlus Genetics (National Library of Medicine) Weissenbacher-Zweymüller ...
  5. TUBB4A-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK395611
    ... SOX 10 -associated leukodystrophy/peripheral and central demyelination, Waardenburg syndrome, and Hirschsprung disease (PCWH) (OMIM 609136 ) is an ... Involvement of the peripheral nervous system (sensory loss) Waardenburg syndrome (skin and hair pigmentation changes, heterochromia iridis, and ...
  6. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 3 are inherited in an autosomal recessive manner. Waardenburg syndrome is an auditory-pigmentary syndrome with sensorineural hearing ... hair, skin, and eyes. It is debated whether Waardenburg syndrome should be classified as a syndromic form of ...
  7. Genetic Hearing Loss Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1434
    ... ear. EDN3 EDNRB KITLG MITF PAX3 SNAI2 SOX10 Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I .) SNHL Congenital Variable Most common type ... HL = hearing loss; SNHL = sensorineural hearing loss; WS = Waardenburg syndrome Table 6b. Select Common Causes of Autosomal Recessive ...
  8. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 929 Trisomy 18 Syndrome C16.131.077.938 Waardenburg Syndrome C16.131.077.941 Weill-Marchesani Syndrome C16. ... 673 Quartz Crystal Microbalance Techniques E05.978.808 Reference Standards E05.978.808.249 Fiducial Markers E05. ...
  9. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... EDN3 EDNRB KITLG MITF PAX3 SNAI2 SOX10 SOX10 Waardenburg syndrome (See Waardenburg Syndrome Type I .) AD AR Premature graying of hair ... posted live 11 January 2011 (al) Original submission References Published Guidelines / Consensus Statements Milunsky JM, Maher TM, ...
  10. POLR3-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99167
    ... Hypomyelinating leukodystrophy Prominent spasticity Peripheral neuropathy, central hypomyelination, Waardenburg syndrome, Hirschsprung disease (OMIM 609136 ) SOX10 AD Peripheral demyelinating ...
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